[Skip to Navigation]
July 1968

Cerebrotendinous Xanthomatosis: The Storage of Cholestanol Within the Nervous System

Author Affiliations

Los Angeles; Seattle
From the University of Washington School of Medicine, Seattle.

Arch Neurol. 1968;19(1):47-53. doi:10.1001/archneur.1968.00480010065004

CERBROTENDINOUS xanthomatosis is a rare, but well-defined familial disease, first described by van Bogaert and associates.1 It is characterized by xanthomas of tendons and lungs, cataracts, slowly progressive cerebellar ataxia, and dementia. On pathological examination the brainstem and cerebellum are found to be the two most affected areas within the nervous system. Here myelin destruction, a variable degree of gliosis, and xanthoma cells are visible. Massive deposits of cholesterol crystals are observed in white matter, suggesting a derangement in cholesterol metabolism.

The condition is distinct from other xanthomatoses with cerebral involvement. In histiocytosis X (Hand-Schuller-Christian disease) the brain may participate the xanthomatous changes occurring in the other viscera, but in this condition the xanthomatous transformation is probably secondary to a granulomatous process. Feigin2 also described cerebral xanthomatosis associated with widespread demyelination, but unaccompanied by visceral xanthomata. Demyelination was the outcome of various exogenous insults to the central

Add or change institution